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Author: Jamie M Ellingford

Rankings

  • All-time downloads: 3,251 (rank: 32,310 (tie) out of 393,786)
  • Categories:
    • genetics: 968 (rank: 13,418 (tie) out of 36,143)
    • genomics: 2,283 (rank: 8,572 (tie) out of 41,878)

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Preprints

Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia

genomics more details view paper
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  • Download rankings, all-time:
    • Site-wide: 8,045 out of 92,180
    • In genomics: 1,221 out of 5,817
  • Year to date:
    • Site-wide: 17,413 out of 92,180
  • Since beginning of last month:
    • Site-wide: 11,037 out of 92,180

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

genomics more details view paper
  • Downloaded 1,016 times
  • Download rankings, all-time:
    • Site-wide: 11,629 out of 92,180
    • In genomics: 1,619 out of 5,817
  • Year to date:
    • Site-wide: 5,846 out of 92,180
  • Since beginning of last month:
    • Site-wide: 4,418 out of 92,180

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer

genetics more details view paper
  • Downloaded 798 times
  • Download rankings, all-time:
    • Site-wide: 16,921 out of 92,180
    • In genetics: 1,086 out of 4,737
  • Year to date:
    • Site-wide: 60,284 out of 92,180
  • Since beginning of last month:
    • Site-wide: 70,165 out of 92,180

Variability in gene expression is associated with incomplete penetrance in inherited eye disorders

genetics more details view paper
  • Downloaded 170 times
  • Download rankings, all-time:
    • Site-wide: 76,349 out of 92,180
    • In genetics: 4,091 out of 4,737
  • Year to date:
    • Site-wide: 23,671 out of 92,180
  • Since beginning of last month:
    • Site-wide: 54,746 out of 92,180

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